Francisco Javier Lopera

Francisco Javier Lopera
University of Antioquia | UdeA · Grupo de Neurociencias de Antioquia

MD Behavioral Neurologist

About

466
Publications
113,692
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Introduction
Clinical and Behavioral Neurologist, Titular Professor, Coordinator of Neuroscience Group of the University of Antioquia, Colombia. PI of Alzheimer Prevention Iniciative Colombia, (API Colombia). Working in Familial Alzheimer Diseas, CADASIL, Parkinson Desease, Huntington, Frontotemporal Dementias, ADHD, Specific Language and speach impairment, Neurodegenerative and Neurodevelopmental problems of the community.
Additional affiliations
January 1986 - present
University of Antioquia
Position
  • Research Director of Neurosciences Group of Antioquia

Publications

Publications (466)
Article
Full-text available
Across Latin American and Caribbean countries (LACs), the fight against dementia faces pressing challenges, such as heterogeneity, diversity, political instability, and socioeconomic disparities. These can be addressed more effectively in a collaborative setting that fosters open exchange of knowledge. In this work, the Latin American and Caribbean...
Article
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Objective: To determine possible associations of hemispheric-regional alpha/theta ratio (α/θ) with neuropsychological test performance in Parkinson’s Disease (PD) non-demented patients. Methods: 36 PD were matched to 36 Healthy Controls (HC). The α/θ in eight hemispheric regions was computed from the relative power spectral density of the resting-...
Article
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Background: Weight loss and malnutrition are frequent findings in late-onset and sporadic presentations of Alzheimer’s Disease (AD). However, less is known about nutritional status in Early-Onset Autosomal Dominant AD (EO-ADAD). Objective: To analyze the association between nutritional status and other clinical and sociodemographic characteristics...
Preprint
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Background Traditionally, the identification of cognitive impairment is based on neuropsychological tests and supported with not widely available biomarkers. This study aimed to establish the association between motor function (Gait Speed and Handgrip Strength) and the performance in a global cognitive performance and various cognitive domains. Our...
Article
Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's p...
Article
Full-text available
Importance Recent studies have suggested that unawareness, or anosognosia, of memory decline is present in predementia stages of Alzheimer disease (AD) and may serve as an early symptomatic indicator of AD. Objective To investigate the evolution of anosognosia of memory decline in individuals who carry the PSEN1 E280A variant for autosomal dominan...
Article
Sleep‐wake dysregulation may increase the risk of developing Alzheimer’s Disease (AD). In turn, AD pathology in sleep/wake regulatory brain regions may exacerbate sleep disturbances. It is unclear whether sleep dysregulation occurs before or after the onset of clinical symptoms in AD. In this study, we aimed to investigate whether the volume of bra...
Article
The Colombia Alzheimer’s Prevention Initiative (API) Registry was a resource for enrollment into the API Colombia clinical trial. Potentially eligible candidates from the Colombia API Registry went through a prescreening and then in‐person screening process with the goal of enrolling them in the API ADAD Colombia Trial. Analysis of screening data m...
Article
More than 300 pathogenic variants in APP, PSEN1 and PSEN2 genes have been reported causing Dominant Inhered Alzheimer Disease (DIAD); most of these reports come from Northern hemisphere countries. In recent years, a growing number of familial AD cases have become known in Central and South American countries; however, little is known about epidemio...
Article
Some late‐onset Alzheimer’s disease studies suggest that affective disorders begin before cognitive impairment and promote decline. Nevertheless, it has been observed that in Autosomal Dominant Alzheimer’s Disease (ADAD), asymptomatic mutation carriers have a lower risk of disorders such as depression compared to non‐carriers. The relationship betw...
Article
Body mass index (BMI) is a known risk factor for Alzheimer’s disease (AD). Research with autosomal dominant Alzheimer’s disease (ADAD) has shown a relationship between lower BMI, greater amyloid burden and worse memory performance in presymptomatic mutation carriers. Women have a higher incidence of AD, and may be more susceptible to AD‐ related pa...
Article
While loss of insight of cognitive deficits, anosognosia, is a common symptom in Alzheimer's disease (AD) dementia, there is a lack of consensus regarding the presence of altered awareness of memory function in the pre‐dementia stages of the disease. Here, we investigated the evolution of memory awareness in the AD‐course in a large cohort of indiv...
Article
Physical activity is a promising lifestyle factor that could protect against memory decline in preclinical Alzheimer’s disease (AD). Greater physical activity has been shown to attenuate the relationship between amyloid‐b and cognitive decline and neurodegeneration in individuals at risk for dementia. Yet, little is known about the relation of phys...
Article
Growing evidence suggests that females have greater biological risk for Alzheimer’s disease (AD). As levels of AD pathology increase, females show greater tau accumulation, faster hippocampal volume loss, and faster cognitive decline than males. We sought to investigate sex differences in individuals with preclinical autosomal dominant AD (ADAD), w...
Article
There is very little research about the impact of family stigma and the type of dementia on the mental/physical health, and Quality of life (QoL) in early‐onset Alzheimer's disease (EOAD) and Frontotemporal dementia (FTD) caregivers. Thus, we aimed to address the question of whether family stigma and the type of dementia are predictors of depressio...
Article
In contrast to late onset Alzheimer’s disease (LOAD), the late clinical stages of autosomal dominant Alzheimer’s disease (ADAD) are associated with greater neuropathological evidence of cerebellar amyloid plaque (Aß) deposition. In this study, we used PET measurements of fibrillar Aß burden to characterize the presence and age at onset of cerebella...
Article
Increasing evidence suggests that depressive symptoms may be among early behavioral changes in Alzheimer’s Disease (AD). However, the neurobiology of these symptoms in the preclinical stages of AD remains unclear, particularly in relation to markers of neurodegeneration. Studying depression in individuals who carry mutations for autosomal dominant...
Article
Cerebrospinal fluid (CSF) p‐tau181 (tau phosphorylated at threonine 181) is an established biomarker of Alzheimer’s disease (AD) reflecting abnormal tau metabolism in the brain. We have recently shown that also plasma p‐tau181 is a promising biomarker for AD (Janelidze et al, Nature Medicine, 2020). We now evaluate whether CSF p‐tau217 or plasma p‐...
Article
Introduction: A growing number of dominantly inherited Alzheimer's disease (DIAD) cases have become known in Latin American (LatAm) in recent years. However, questions regarding mutation distribution and frequency by country remain open. Methods: A literature review was completed aimed to provide estimates for DIAD pathogenic variants in the Lat...
Article
Introduction: Gait speed (GS) is a predictor of negative outcomes in older adults and in those in risk to develop cognitive impairment; as such, it has been associated with dementia. Studies in Latin-American older adults showing this association are scarce. This study aimed to evaluate the relationship between GS and dementia in a representative...
Preprint
Full-text available
To date, over 90 Parkinson’s disease (PD) risk variants have been reported from genome-wide association studies (GWAS). However, these GWAS efforts have been limited to individuals of European and East Asian ancestry. We performed the first GWAS of Latino PD patients from South America, comparing 807 cases against 690 controls followed by associati...
Preprint
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Background: Genetic associations with Alzheimer's disease (AD) age at onset (AAO) have revealed genetic variants with the potential for therapeutic application. Such studies in late onset AD are limited by population heterogeneity and co-morbidities associated with aging. Studies to date in ADAD (autosomal dominant AD) have been limited by their sm...
Article
Full-text available
Background: To determine whether performance on the Latin American Spanish version of the Face-Name Associative Memory Exam (LAS-FNAME) can differentiate between cognitively intact carriers of an autosomal dominant Alzheimer's disease mutation (E280A) in Presenilin-1, who are genetically determined to develop early-onset dementia, from matched non...
Article
Full-text available
Background: Growing evidence suggests that there may be a sex-specific biological risk for Alzheimer's disease (AD). Individuals with autosomal dominant AD due to a mutation (E280A) in Presenilin-1 (PSEN1) are genetically determined to develop early-onset dementia and thus, have few age-related risk factors for AD that are known to vary by sex (i....
Article
Objective To determine whether performance on the Latin American Spanish version of the Face-Name Associative Memory Exam (LAS-FNAME) can differentiate between cognitively intact carriers of an autosomal dominant Alzheimer’s disease mutation (E280A) in Presenilin-1, who are destined to develop early-onset dementia, from matched non-carriers. We als...
Article
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Background: Over the past decade, visual short-term memory (VSTM) binding tests have been shown to be one of the most sensitive behavioral indicators of Alzheimer's disease (AD), especially when they require the binding of multiple features (e.g., color and shape). Recently, it has become possible to directly measure amyloid and tau levels in vivo...
Article
Objective Visual memory (ViM) declines early in Alzheimer’s disease (AD). However, it is unclear whether ViM impairment is evident in the preclinical stage and relates to markers of AD pathology. We examined the relationship between ViM performance and in vivo markers of brain pathology in individuals with autosomal dominant AD (ADAD). Methods For...
Article
Full-text available
Background A growing link between prenatal exposure to misoprostol (PEM) and Moebius syndrome (MS) or sequence has been reported. Our objectives were to describe the craniofacial clinical manifestations associated with MS and to determine the frequency of PEM, comparing cases of exposure and nonexposure. Methods A descriptive, cross‐sectional stud...
Article
Full-text available
Familial Alzheimer’s Disease (FAD) caused by Presenilin-1 (PS1) mutations is characterized by early onset, cognitive impairment, and dementia. Impaired gamma secretase function favors production of longer beta-amyloid species in PS1 FAD. The PS1 E280A mutation is the largest FAD kindred under study. Here, we studied beta-amyloid deposits in PS1 E28...
Article
Importance There are limitations in current diagnostic testing approaches for Alzheimer disease (AD). Objective To examine plasma tau phosphorylated at threonine 217 (P-tau217) as a diagnostic biomarker for AD. Design, Setting, and Participants Three cross-sectional cohorts: an Arizona-based neuropathology cohort (cohort 1), including 34 particip...
Article
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Attention deficit hyperactivity disorder (ADHD) is the most prevalent neurodevelopmental disorder in children, with genetic factors accounting for 75–80% of the phenotypic variance. Recent studies have suggested that ADHD patients might present with atypical central myelination that can persist into adulthood. Given the essential role of sphingolip...
Article
Objective To determine whether performance on the Free and Cued Selective Reminding Test (FSCRT) is associated with PET in vivo markers of brain pathology, and whether it can distinguish those who will develop dementia later in life due to autosomal-dominant AD from age-matched controls. Methods Twenty-four cognitively-unimpaired Presenilin-1 E280...
Article
Full-text available
Reducing the risk of dementia can halt the worldwide increase of affected people. The multifactorial and heterogeneous nature of late‐onset dementia, including Alzheimer's disease (AD), indicates a potential impact of multidomain lifestyle interventions on risk reduction. The positive results of the landmark multidomain Finnish Geriatric Interventi...
Article
Objectives Executive dysfunction is a predominant cognitive symptom in cerebral small vessel disease (SVD). The Institute of Cognitive Neurology Frontal Screening (IFS) is a well-validated screening tool allowing the rapid assessment of multiple components of executive function in Spanish-speaking individuals. In this study, we examined performance...
Article
Background: Neurofilament light chain (NfL) is a promising biomarker of active axonal injury and neuronal degeneration. We aimed to characterise cross-sectional and longitudinal plasma NfL measurements and determine the age at which NfL concentrations begin to differentiate between carriers of the presenilin 1 (PSEN1) E280A (Glu280Ala) mutation an...
Preprint
Full-text available
Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's di...
Article
Full-text available
El método de la logogenia crea condiciones para posibilitar el proceso de adquisición del español en personas sordas, a través de su exposición al código escrito, para que estas puedan comunicarse. Debido a la utilidad de la logogenia en sordos jóvenes y adultos, es pertinente identificar su funcionalidad en niños, época de la vida en la que podría...
Article
Introduction Alzheimer’s disease (AD) impacts brain regions that control circadian regulation systems such as wakefulness and daytime physical activity. Recent evidence shows that AD pathology is damaging for wake-promoting neurons. Whether early changes in wakefulness and daytime activity occur during asymptomatic stages of familial AD (fAD) remai...
Article
Full-text available
Alzheimer’s disease (AD) is a neurodegenerative disorder characterized by progressive memory loss and cognitive disturbance as a consequence of the loss of cholinergic neurons in the brain, neuritic plaques and hyperphosphorylation of TAU protein. Although the underlying mechanisms leading to these events are unclear, mutations in presenilin 1 (PSE...
Article
Full-text available
Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are neurodegenerative disorders that result in a significant burden to both patients and caregivers. By 2050, the number of people with dementia in Latin America will increase 4-fold. A deep understanding of the relevant genetic factors of AD and FTD is fundamental to tackle this reality th...
Article
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Introduction: The API AutosomalDominant AD (ADAD) Colombia Trial is a placebo-controlled clinical trial of crenezumab in 252 cognitively unimpaired 30 to 60-year-old Presenilin 1 (PSEN1) E280A kindred members, including mutation carriers randomized to active treatment or placebo and non-carriers who receive placebo. Methods: Of the 252 enrolled,...
Chapter
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Cuidar a una persona con diagnóstico de demencia en tiempos de aislamiento por la pandemia por SARS-Cov-2 supone aún muchos más desafíos que a la población general. Algunas recomendaciones para desarrollar efectivamente actividades de estimulación cognitiva con nuestros familiares o amigos con deterioro cognitivo son las siguientes:
Chapter
Dementia, characterized by a gradual onset and progressive decline of cognitive function that impacts daily life, is the only top ten cause of death with no cure or means of prevention. Research with a Colombian extended family with a genetic mutation causing Alzheimer’s disease (AD) has helped scholars reconceptualize Alzheimer’s as a continuum th...
Article
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As the population ages, the incidence of chronic diseases such as dementia increases. Dementia with Lewy bodies (DLB) is one of the most common dementias after Alzheimer's disease, and it is characterized clinically by a tetrad consisting of visual hallucinations, spontaneous parkinsonism, REM sleep behavior disorders, and dementia. The diagnosis o...
Preprint
Full-text available
Background and objectives: Parkinson's disease is a neurological disorder that affects the motor system producing lack of coordination, resting tremor, and rigidity. Impairments in handwriting are among the main symptoms of the disease. Handwriting analysis can help in supporting the diagnosis and in monitoring the progress of the disease. This pap...
Article
Full-text available
Alzheimer’s disease (AD) is progressive brain disorder that affects ~ 50 million people worldwide and has no current effective treatment. AD age of onset (ADAOO) has shown to be critical for the identification of genes that modify the appearance of AD signs and symptoms in a specific population. We clinically characterized and whole-exome genotyped...
Article
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Al editor: En la presente carta se pretende sensibilizar al lector sobre la magnitud e importancia de ver a la demencia como prioridad en salud pública en Colombia. Se plantea la nece-sidad de intervenciones efectivas, en especial, en prevención secundaria como punto decisivo en la modificación de la historia natural de la enfermedad. Se exponen lo...
Article
Objective: The Face-Name Associative Memory Exam (FNAME) has been used to detect subtle cognitive changes in clinically normal older adults at increased risk for Alzheimer’s disease. FNAME assesses learning and delayed recall for face-name pairs. The aim of this study is to introduce a Latin American Spanish version of the FNAME (LAS-FNAME), examin...
Article
Full-text available
We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amylo...
Poster
Objective Neuropsychiatric symptoms (NPS) are common clinical features of patients with Parkinson’s disease (PD). However, such symptoms in non-demented PD patients have scarcely been investigated. To address this issue, we describe the neuropsychiatric profile in PD patients with and without Mild Cognitive Impairment (MCI). Participants and Metho...
Article
Full-text available
Background: There are forms of Alzheimer's disease (AD) that have an autosomal dominant inheritance pattern; one of them is caused by the E280A mutation in the gene that codes for Presenilin-1 (PSEN1). Studying families of people with this mutation allows the evaluation of characteristics of the subjects before cognitive decline begins. Objective...
Preprint
Full-text available
Alzheimer’s disease (AD) is a neurodegenerative disorder characterized by progressive memory loss and cognitive disturbance as a consequence of the loss of cholinergic neurons in the brain, neuritic plaques and hyperphosphorylation of TAU protein. Although the underlying mechanisms leading to these events are unclear, mutations in presenilin 1 (PSE...
Article
Full-text available
Background: There are forms of Alzheimer's disease (AD) that have an autosomal dominant inheritance pattern; one of them is caused by the E280A mutation in the gene that codes for Presenilin-1 (PSEN1). Studying families of people with this mutation allows the evaluation of characteristics of the subjects before cognitive decline begins. Objective...